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rs68018207

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs68018207(C;C)
Make rs68018207(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132389020
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs68018207
ebirs68018207
HLIrs68018207
Exacrs68018207
Varsomers68018207
Maprs68018207
PheGenIrs68018207
hapmaprs68018207
1000 genomesrs68018207
hgdprs68018207
ensemblrs68018207
gopubmedrs68018207
geneviewrs68018207
scholarrs68018207
googlers68018207
pharmgkbrs68018207
gwascentralrs68018207
openSNPrs68018207
23andMers68018207
23andMe allrs68018207
SNP Nexus

SNPshotrs68018207
SNPdbers68018207
MSV3drs68018207
GWAS Ctlgrs68018207
Max Magnitude0
OMIM603377
Desc
Variant0015
Relatedalso
ClinVar
Risk rs68018207(C;C)
Alt rs68018207(C;C)
Reference rs68018207(T;T)
Significance Pathogenic
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131724712T>C
CLNSRC ARUP SLC22A5 OMIM Allelic Variant
CLNACC RCV000006792.5,